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NIH, Inova Seek to Predict Health Conditions by Studying Genotypes

NEW YORK (GenomeWeb) – Seeking to find ways to predict the impact of genotypes on individual health, the National Institutes of Health has contracted with Inova Health System in Virginia to build a new kind of research database.

Yesterday, NIH and Inova announced a two-year pilot called the Genomic Ascertainment Cohort (TGAC) that will collect 10,000 human genomes and exomes, predict phenotypes from genes and gene variants, then examine DNA donors to test the accuracy of the forecasts. This approach, NIH noted, runs counter to previous research strategies of looking at genotypes after observing traits and symptoms.

"We're trying to advance science in a new, creative, and slightly radical way," TGAC Co-organizer Leslie Biesecker said in a statement.

"Our goal is to determine what genes and gene variants do. We're especially interested in using this as a platform to test our ability to predict phenotype from genotype — one of the key underpinnings of predictive genomic medicine," added Biesecker, chief of the medical genomics and metabolic genetics branch at the NIH National Human Genome Research Institute, which will run the TGAC pilot.  

"This is essentially matchmaking between genes and gene variants and the researchers who study them," said co-organizer, Richard Siegel, clinical director and chief of the autoimmunity at NIH's National Institute of Arthritis and Musculoskeletal and Skin Diseases. "We hope they'll provide insights that haven't been possible until now."

NHGRI and several other NIH institutes will contribute 1,000 genome and exome sequences they have collected in other research programs, while Inova will share about 8,000 sequences of parent-child trios from its Longitudinal Childhood Genome Study. The other 1,000 genomes and exome sequences will be from newly recruited patients, half of whom will be Hispanic, the organizers said; NIH already has sequences from 500 African-Americans in its ClinSeq database.

"When we established the Childhood Longitudinal Cohort study at Inova in 2012, this is exactly the vision we had for how such a longitudinal cohort with genomic data would be used to support ground-breaking genomic research," Inova Translational Medicine Institute CEO John Niederhuber said.

Only patients who have given express consent to be called in for re-examination will have their sequences included in TGAC. Researchers using the database will be able to request that patients with specific genotypes come into the NIH Clinical Center in Bethesda, Maryland, for phenotyping via blood tests and medical imaging, the organizers said.

Initially, only NIH and Inova researchers will have access to the TGAC database. "If successful, we plan to open the database to outside researchers in the future," Siegel said.